Characterization of Inducible Models of Tay-Sachs and Related Disease

PLoS Genetics

Volumn 8, Issue 9, 2012, Pages

  Sargeant, Timothy J ^a   Drage, Deborah J ^b   Wang, Susan ^a   Apostolakis, Apostolos A ^a   Cox, Timothy M ^a   Cachón González, M Begoña ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; GLYCOCONJUGATE; SYNAPSIN I; TETRACYCLINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRADYKINESIA; BRAIN STEM; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE COURSE; EXPERIMENTAL MODEL; GENE; GENE CASSETTE; GENE EXPRESSION; GENE SILENCING; GERM LINE; GLIOSIS; HEXB GENE; MOUSE; MUSCLE TONE; NEUROPATHOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; PARALYSIS; PROMOTER REGION; SANDHOFF DISEASE; SPINAL CORD; STEREOTYPY; SYNAPSIN 1 GENE; TAY SACHS DISEASE; TRANSGENE; TREMOR;

ANIMALS; BETA-N-ACETYLHEXOSAMINIDASES; BRAIN; DISEASE MODELS, ANIMAL; DOXYCYCLINE; G(M2) GANGLIOSIDE; GENE EXPRESSION REGULATION; HEK293 CELLS; HUMANS; LYSOSOMES; MICE; MICE, TRANSGENIC; NEURONS; PROMOTER REGIONS, GENETIC; SANDHOFF DISEASE; SPINAL CORD; TAY-SACHS DISEASE;

MUS;

EID: 84866930441     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002943     Document Type: Article

References (49)

1. Tay W, (1881) Symmetrical changes in the region of the yellow spot in each eye of an infant. Trans Opthalmol Soc 1: 55-57.
2. Sachs B, (1887) On arrested cerebral development with special reference to cortical pathology. J Nerv Ment Dis 14: 541-554.
3. Sandhoff K, Andreae U, Jatzkewitz H, (1968) Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci 7: 283-288.
4. Svennerholm L, (1962) The chemical structure of normal human brain and Tay-Sachs gangliosides. Biochem Biophys Res Commun 9: 436-441.
5. Makita A, Yamakawa T, (1963) The glycolipids of the brain of Tay-Sachs' disease. The chemical structures of globoside and main ganglioside. Jpn J Exp Med 33: 361-368.
6. Ledeen R, Salsman K, (1965) Structure of the Tay-Sachs' ganglioside. Biochemistry 4: 2225-2233.
7. Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, et al. (2011) Natural history of infantile G(M2) gangliosidosis. Pediatrics 128: e1233-1241.
8. Smith NJ, Winstone AM, Stellitano L, Cox TM, Verity CM, (2012) GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. Dev Med Child Neurol 54: 176-182.
9. Schneck L (1964) The clinical aspects of Tay-Sachs disease. In: BWVolk, editor. Tay-Sachs' Disease. New York: Grune and Stratton. pp. 16-35.
10. Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinberg A, et al. (1995) Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet 11: 170-176.
11. Phaneuf D, Wakamatsu N, Huang JQ, Borowski A, Peterson AC, et al. (1996) Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet 5: 1-14.
12. Gossen M, Bujard H, (1992) Tight control of gene expression in mammalian cells by tetracycline-responsive promoters. Proc Natl Acad Sci U S A 89: 5547-5551.
13. Yamamoto A, Lucas JJ, Hen R, (2000) Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101: 57-66.
14. Santacruz K, Lewis J, Spires T, Paulson J, Kotilinek L, et al. (2005) Tau suppression in a neurodegenerative mouse model improves memory function. Science 309: 476-481.
15. Lopez ME, Klein AD, Dimbil UJ, Scott MP, (2011) Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder. J Neurosci 31: 4367-4378.
16. Norflus F, Yamanaka S, Proia RL, (1996) Promoters for the human beta-hexosaminidase genes, HEXA and HEXB. DNA Cell Biol 15: 89-97.
17. Ralph GS, Bienemann A, Harding TC, Hopton M, Henley J, et al. (2000) Targeting of tetracycline-regulatable transgene expression specifically to neuronal and glial cell populations using adenoviral vectors. Neuroreport 11: 2051-5.
18. Schoch S, Cibelli G, Thiel G, (1996) Neuron-specific gene expression of synapsin I. Major role of a negative regulatory mechanism. J Biol Chem 271: 3317-3323.
19. Chung JH, Bell AC, Felsenfeld G, (1997) Characterization of the chicken beta-globin insulator. Proc Natl Acad Sci U S A 94: 575-580.
20. Hogan B, Beddington R, Costantini F, Lacy E (1994) Manipulating the mouse embryo, a laboratory manual (second edition). New York: Cold Spring Harbor Laboratory Press.
21. Cachón-González MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM, (2006) Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci U S A 103: 10373-10378.
22. Lacorazza HD, Jendoubi M, (1995) In situ assessment of beta-hexosaminidase activity. Biotechniques 19: 434-440.
23. Cachón-González MB, Wang SZ, McNair R, Bradley J, Lunn D, et al. (2012) Gene Transfer Corrects Acute GM2 Gangliosidosis-Potential Therapeutic Contribution of Perivascular Enzyme Flow. Mol Ther 27 March [E-pub ahead of print].
24. Hickman S, Shapiro LJ, Neufeld EF, (1974) A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun 57: 55-61.
25. Chtarto A, Bender HU, Hanemann CO, Kemp T, Lehtonen E, et al. (2003) Tetracycline-inducible transgene expression mediated by a single AAV vector. Gene Ther 10: 84-94.
26. Mizuguchi H, Hayakawa T, (2002) The tet-off system is more effective than the tet-on system for regulating transgene expression in a single adenovirus vector. J Gene Med 4: 240-247.
27. Hofmann A, Nolan GP, Blau HM, (1996) Rapid retroviral delivery of tetracycline-inducible genes in a single autoregulatory cassette. Proc Natl Acad Sci U S A 93: 5185-5190.
28. Miyazaki S, Miyazaki T, Tashiro F, Yamato E, Miyazaki J, (2005) Development of a single-cassette system for spatiotemporal gene regulation in mice. Biochem Biophys Res Commun 338: 1083-1088.
29. Masui S, Shimosato D, Toyooka Y, Yagi R, Takahashi K, et al. (2005) An efficient system to establish multiple embryonic stem cell lines carrying an inducible expression unit. Nucleic Acids Res 33: e43.
30. Shapovalov AI, Gurevitch NR, (1970) Monosynaptic and disynaptic reticulospinal actions on lumbar motoneurons of the rat. Brain Res 21: 249-263.
31. Peterson BW, Pitts NG, Fukushima K, (1979) Reticulospinal connections with limb and axial motoneurons. Exp Brain Res 36: 1-20.
32. Riddle CN, Edgley SA, Baker SN, (2009) Direct and indirect connections with upper limb motoneurons from the primate reticulospinal tract. J Neurosci 29: 4993-4999.
33. Crone C, Petersen NT, Nielsen JE, Hansen NL, Nielsen JB, (2004) Reciprocal inhibition and corticospinal transmission in the arm and leg in patients with autosomal dominant pure spastic paraparesis (ADPSP). Brain 127: 2693-2702.
34. Nielsen JB, Crone C, Hultborn H, (2007) The spinal pathophysiology of spasticity-from a basic science point of view. Acta Physiol (Oxf) 189: 171-180.
35. Sargeant TJ, Wang S, Bradley J, Smith NJ, Raha AA, et al. (2011) Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain. Hum Mol Genet 20: 4371-4380.
36. Molon A, Di Giovanni S, Hathout Y, Natale J, Hoffman EP, (2006) Functional recovery of glycine receptors in spastic murine model of startle disease. Neurobiol Dis 21: 291-304.
37. Halley DJ, de Wit-Verbeek HA, Reuser AJ, Galjaard H, (1978) The distribution of hydrolytic enzyme activities in human fibroblast cultures and their intercellular transfer. Biochem Biophys Res Commun 82: 1176-1182.
38. Anders K, Buschow C, Charo J, Blankenstein T, (2011) Depot formation of doxycycline impairs Tet-regulated gene expression in vivo. Transgenic Res In press.
39. Krestel HE, Shimshek DR, Jensen V, Nevian T, Kim J, et al. (2004) A Genetic Switch for Epilepsy in Adult Mice. J Neurosci 24: 10568-10578.
40. Bejar R, Yasuda R, Krugers H, Hood K, Mayford M, (2002) Transgenic calmodulin-dependent protein kinase II activation: dose-dependent effects on synaptic plasticity, learning, and memory. J Neurosci 22: 5719-5726.
41. Zhu P, Aller MI, Baron U, Cambridge S, Bausen M, et al. (2007) Silencing and un-silencing of tetracycline-controlled genes in neurons. PLoS ONE 2: e533 doi:10.1371/journal.pone.0000533.
42. Pankiewicz R, Karlen Y, Imhof MO, Mermod N, (2005) Reversal of the silencing of tetracycline-controlled genes requires the coordinate action of distinctly acting transcription factors. J Gene Med 7: 117-132.
43. Ngamukote S, Yanagisawa M, Ariga T, Ando S, Yu RK, (2007) Developmental changes of glycosphingolipids and expression of glycogenes in mouse brains. J Neurochem 103: 2327-2341.
44. Yu RK, Macala LJ, Taki T, Weinfield HM, Yu FS, (1988) Developmental changes in ganglioside composition and synthesis in embryonic rat brain. J Neurochem 50: 1825-1829.
45. Zervas M, Walkley SU, (1999) Ferret pyramidal cell dendritogenesis: changes in morphology and ganglioside expression during cortical development. J Comp Neurol 413: 429-448.
46. Goodman LA, Walkley SU, (1996) Elevated GM2 ganglioside is associated with dendritic proliferation in normal developing neocortex. Brain Res Dev Brain Res 93: 162-171.
47. Walkley SU, Siegel DA, Dobrenis K, (1995) GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochem Res 20: 1287-1299.
48. Yu T, Shakkottai VG, Chung C, Lieberman AP, (2011) Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration. Hum Mol Genet 20: 4440-4451.
49. Manfredsson FP, Burger C, Rising AC, Zuobi-Hasona K, Sullivan LF, et al. (2009) Tight Long-term dynamic doxycycline responsive nigrostriatal GDNF using a single rAAV vector. Mol Ther 17: 1857-1867.